Bakker E - Search Results

1

EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas.

Bovée JV, Cleton-Jansen AM, Wuyts W, Caethoven G, Taminiau AH, Bakker E, Van Hul W, Cornelisse CJ, Hogendoorn PC. Bovée JV, et al. Among authors: bakker e. Am J Hum Genet. 1999 Sep;65(3):689-98. doi: 10.1086/302532. Am J Hum Genet. 1999. PMID: 10441575 Free PMC article.

2

No haploinsufficiency but loss of heterozygosity for EXT in multiple osteochondromas.

Reijnders CM, Waaijer CJ, Hamilton A, Buddingh EP, Dijkstra SP, Ham J, Bakker E, Szuhai K, Karperien M, Hogendoorn PC, Stringer SE, Bovée JV. Reijnders CM, et al. Among authors: bakker e. Am J Pathol. 2010 Oct;177(4):1946-57. doi: 10.2353/ajpath.2010.100296. Epub 2010 Sep 2. Am J Pathol. 2010. PMID: 20813973 Free PMC article.

3

Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations.

Vink GR, White SJ, Gabelic S, Hogendoorn PC, Breuning MH, Bakker E. Vink GR, et al. Among authors: bakker e. Eur J Hum Genet. 2005 Apr;13(4):470-4. doi: 10.1038/sj.ejhg.5201343. Eur J Hum Genet. 2005. PMID: 15586175

4

Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.

Wuyts W, Van Hul W, De Boulle K, Hendrickx J, Bakker E, Vanhoenacker F, Mollica F, Lüdecke HJ, Sayli BS, Pazzaglia UE, Mortier G, Hamel B, Conrad EU, Matsushita M, Raskind WH, Willems PJ. Wuyts W, et al. Among authors: bakker e. Am J Hum Genet. 1998 Feb;62(2):346-54. doi: 10.1086/301726. Am J Hum Genet. 1998. PMID: 9463333 Free PMC article.

5

DNA diagnosis for hereditary cerebral hemorrhage with amyloidosis (Dutch type).

Bakker E, van Broeckhoven C, Haan J, Voorhoeve E, van Hul W, Levy E, Lieberburg I, Carman MD, van Ommen GJ, Frangione B, et al. Bakker E, et al. Am J Hum Genet. 1991 Sep;49(3):518-21. Am J Hum Genet. 1991. PMID: 1679289 Free PMC article.

6

Extending the p16-Leiden tumour spectrum by respiratory tract tumours.

Oldenburg RA, de Vos tot Nederveen Cappel WH, van Puijenbroek M, van den Ouweland A, Bakker E, Griffioen G, Devilee P, Cornelisse CJ, Meijers-Heijboer H, Vasen HF, Morreau H. Oldenburg RA, et al. Among authors: bakker e. J Med Genet. 2004 Mar;41(3):e31. doi: 10.1136/jmg.2003.012336. J Med Genet. 2004. PMID: 14985402 Free PMC article. No abstract available.

7

BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients.

Petrij-Bosch A, Peelen T, van Vliet M, van Eijk R, Olmer R, Drüsedau M, Hogervorst FB, Hageman S, Arts PJ, Ligtenberg MJ, Meijers-Heijboer H, Klijn JG, Vasen HF, Cornelisse CJ, van 't Veer LJ, Bakker E, van Ommen GJ, Devilee P. Petrij-Bosch A, et al. Among authors: bakker e. Nat Genet. 1997 Nov;17(3):341-5. doi: 10.1038/ng1197-341. Nat Genet. 1997. PMID: 9354803 Free article.

8

Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs.

Vreeswijk MP, Kraan JN, van der Klift HM, Vink GR, Cornelisse CJ, Wijnen JT, Bakker E, van Asperen CJ, Devilee P. Vreeswijk MP, et al. Among authors: bakker e. Hum Mutat. 2009 Jan;30(1):107-14. doi: 10.1002/humu.20811. Hum Mutat. 2009. PMID: 18693280

9

Germline mosaicism and Duchenne muscular dystrophy mutations.

Bakker E, Van Broeckhoven C, Bonten EJ, van de Vooren MJ, Veenema H, Van Hul W, Van Ommen GJ, Vandenberghe A, Pearson PL. Bakker E, et al. Nature. 1987 Oct 8-14;329(6139):554-6. doi: 10.1038/329554a0. Nature. 1987. PMID: 2889144

10

Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.

Den Dunnen JT, Grootscholten PM, Bakker E, Blonden LA, Ginjaar HB, Wapenaar MC, van Paassen HM, van Broeckhoven C, Pearson PL, van Ommen GJ. Den Dunnen JT, et al. Among authors: bakker e. Am J Hum Genet. 1989 Dec;45(6):835-47. Am J Hum Genet. 1989. PMID: 2573997 Free PMC article.

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